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Article

TFAP2B mutation and dental anomalies.

Journal of human genetics - 1 Aug 2017

Tanasubsinn Natchaya, Sittiwangkul Rekwan, Pongprot Yupada, Kawasaki Katsushige, Ohazama Atsushi, Sastraruji Thanapat, Kaewgahya Massupa, Kantaputra Piranit Nik

Abstract excerpt

Mutations inTFAP2B has been reported in patients with isolated patent ductus arteriosus (PDA) and Char syndrome. We performed mutation analysis of TFAP2B in 43 patients with isolated PDA, 7 patients with PDA with other congenital heart defects and 286 patients with isolated tooth agenesis with or without other dental anomalies. The heterozygous c.1006G>A mutation was identified in 20 individuals. Those mutation...

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Identifiers

PMID: 28381879
DOI: 10.1038/jhg.2017.37
PMCID: PMC5537417

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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